Towards precision medicine

Fast and accurate short read alignment with Burrows-Wheeler transform

Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607 · see citing works

Fast gapped-read alignment with Bowtie 2

Langmead, B., & Salzberg, S. L. (2012) · Nature Methods · doi:10.1038/nmeth.1923 · Cited by 56,400 · see citing works

Causality: Models, Reasoning, and Inference

Pearl, J. (2009) · doi:10.1017/cbo9780511803161 · Cited by 11,653 · see citing works

A general method applicable to the search for similarities in the amino acid sequence of two proteins

Needleman, S. B., & Wunsch, C. D. (1970) · Journal of Molecular Biology · doi:10.1016/0022-2836(70)90057-4 · Cited by 11,288 · see citing works

Identification of common molecular subsequences

Smith, T. F., & Waterman, M. S. (1981) · Journal of Molecular Biology · doi:10.1016/0022-2836(81)90087-5 · Cited by 9,962 · see citing works

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works

Finding the missing heritability of complex diseases

Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336 · see citing works

An integrated map of genetic variation from 1,092 human genomes

The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711 · see citing works

Base-Calling of Automated Sequencer Traces Using Phred. I. Accuracy AssessmentPreprint

Ewing, B., Hillier, L., Wendl, M. C., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.175 · Cited by 6,993 · see citing works

Prasugrel versus clopidogrel in patients with acute coronary syndromes

Wiviott, S. D., Braunwald, E., McCabe, C. H., Montalescot, G., Ruzyllo, W., Gottlieb, S., Neumann, F.-J., Ardissino, D., De Servi, S., Murphy, S. A., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa0706482 · Cited by 6,790 · see citing works

A haplotype map of the human genome

The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works

Base-Calling of Automated Sequencer Traces Using <i>Phred.</i> II. Error Probabilities

Ewing, B., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.186 · Cited by 5,439 · see citing works

A New Initiative on Precision Medicine

Collins, F. S., & Varmus, H. (2015) · New England Journal of Medicine · doi:10.1056/nejmp1500523 · Cited by 5,202 · see citing works

The National Center for Biotechnology Information

Benson, D. A., Boguski, M. S., Lipman, D. J., & Ostell, J. (1990) · Genomics · doi:10.1016/0888-7543(90)90583-g · Cited by 5,109 · see citing works

Coming of age: ten years of next-generation sequencing technologies

Goodwin, S., McPherson, J. D., & McCombie, W. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.49 · Cited by 4,352 · see citing works

Comprehensive genomic characterization of head and neck squamous cell carcinomas

The Cancer Genome Atlas Network (2015) · Nature · doi:10.1038/nature14129 · Cited by 4,063 · see citing works

Immune checkpoint targeting in cancer therapy: toward combination strategies with curative potential

Sharma, P., & Allison, J. P. (2015) · Cell · doi:10.1016/j.cell.2015.03.030 · Cited by 2,345 · see citing works

A coding-independent function of gene and pseudogene mRNAs regulates tumour biology

Poliseno, L., Salmena, L., Zhang, J., Carver, B. S., Haveman, W. J., & Pandolfi, P. P. (2010) · Nature · doi:10.1038/nature09144 · Cited by 2,313 · see citing works

An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage

Newman, A. M., Bratman, S. V., To, J., Wynne, J. F., Eclov, N. C. W., Modlin, L. A., Liu, C. L., Neal, J. W., Wakelee, H. A., Merritt, R. E., et al. (2014) · Nature Medicine · doi:10.1038/nm.3519 · Cited by 2,220 · see citing works

A CFTR Potentiator in Patients with Cystic Fibrosis and the <i>G551D</i> Mutation

Ramsey, B. W., Davies, J., McElvaney, N. G., Tullis, E., Bell, S. C., Dřevínek, P., Griese, M., McKone, E. F., Wainwright, C. E., Konstan, M. W., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1105185 · Cited by 2,195 · see citing works

Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib

Sosman, J. A., Kim, K. B., Schuchter, L., Gonzalez, R., Pavlick, A. C., Weber, J. S., McArthur, G. A., Hutson, T. E., Moschos, S. J., Flaherty, K. T., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1112302 · Cited by 2,156 · see citing works

Pooled Analysis of Long-Term Survival Data From Phase II and Phase III Trials of Ipilimumab in Unresectable or Metastatic Melanoma

Schadendorf, D., Hodi, F. S., Robert, C., Weber, J. S., Margolin, K., Hamid, O., Patt, D., Chen, T.-T., Berman, D. M., & Wolchok, J. D. (2015) · Journal of Clinical Oncology · doi:10.1200/jco.2014.56.2736 · Cited by 2,141 · see citing works

Targeted capture and massively parallel sequencing of 12 human exomes

Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030 · see citing works

Checkpoint blockade cancer immunotherapy targets tumour-specific mutant antigens

Gubin, M. M., Zhang, X., Schuster, H., Caron, E., Ward, J. P., Noguchi, T., Ivanova, Y., Hundal, J., Arthur, C. D., Krebber, W.-J., et al. (2014) · Nature · doi:10.1038/nature13988 · Cited by 1,974 · see citing works

Suffix Arrays: A New Method for On-Line String Searches

Manber, U., & Myers, E. W. (1993) · SIAM Journal on Computing · doi:10.1137/0222058 · Cited by 1,915 · see citing works

Defining the role of common variation in the genomic and biological architecture of adult human height

The Electronic Medical Records and Genomics (eMERGE) Consortium, Wood, A. R., The MIGen Consortium, The PAGE Consortium, Study, T. L. C., Esko, T., Yang, J., Vedantam, S., Pers, T. H., Gustafsson, S., et al. (2014) · Nature Genetics · doi:10.1038/ng.3097 · Cited by 1,853 · see citing works

A marker for Stevens–Johnson syndrome

Chung, W., Chung, W., Hong, H., Hsih, M., Yang, L., Ho, H., Wu, J., & Chen, Y.-T. (2004) · Nature · doi:10.1038/428486a · Cited by 1,748 · see citing works

Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data

The International Warfarin Pharmacogenetics Consortium (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0809329 · Cited by 1,573 · see citing works

ClinGen — The Clinical Genome Resource

Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., Ledbetter, D. H., Maglott, D. R., Martin, C. L., Nussbaum, R. L., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmsr1406261 · Cited by 1,496 · see citing works

Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir

Mallal, S., Nolan, D., Witt, C., Masel, G., Martin, A., Moore, C., Sayer, D., Castley, A., Mamotte, C., Maxwell, D., et al. (2002) · The Lancet · doi:10.1016/s0140-6736(02)07873-x · Cited by 1,380 · see citing works

Big Data: Astronomical or Genomical?

Stephens, Z. D., Lee, S. Y., Faghri, F., Campbell, R. H., Zhai, C., Efron, M. J., Iyer, R., Schatz, M. C., Sinha, S., & Robinson, G. E. (2015) · PLOS Biology · doi:10.1371/journal.pbio.1002195 · Cited by 1,340 · see citing works

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Choi, M., Scholl, U. I., Ji, W., Liu, T., Tikhonova, I. R., Zumbo, P., Nayır, A., Bakkaloğlu, A., Özen, S., Sanjad, S. A., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910672106 · Cited by 1,327 · see citing works

Molecular Testing Guideline for Selection of Lung Cancer Patients for EGFR and ALK Tyrosine Kinase Inhibitors: Guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology

Lindeman, N. I., Cagle, P. T., Beasley, M. B., Chitale, D. A., Dacic, S., Giaccone, G., Jenkins, R. B., Kwiatkowski, D. J., Saldivar, J.-S., Squire, J., et al. (2013) · Journal of Thoracic Oncology · doi:10.1097/jto.0b013e318290868f · Cited by 1,280 · see citing works

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature · doi:10.1038/nature13127 · Cited by 1,224 · see citing works

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

Pruitt, K. D., Tatusova, T., Brown, G. R., & Maglott, D. R. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr1079 · Cited by 1,149 · see citing works

Reduced-Function CYP2C19 Genotype and Risk of Adverse Clinical Outcomes Among Patients Treated With Clopidogrel Predominantly for PCI

Mega, J. L., Simon, T., Collet, J., Anderson, J. L., Antman, E. M., Bliden, K. P., Cannon, C. P., Danchin, N., Giusti, B., Gurbel, P. A., et al. (2010) · JAMA · doi:10.1001/jama.2010.1543 · Cited by 1,131 · see citing works

What makes UK Biobank special?

Collins, R. (2012) · The Lancet · doi:10.1016/s0140-6736(12)60404-8 · Cited by 1,128 · see citing works

Genome sequencing identifies major causes of severe intellectual disability

Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125 · see citing works

Clinical application of whole-exome sequencing across clinical indications

Retterer, K., Juusola, J., Cho, M. T., Vitazka, P., Millan, F., Gibellini, F., Vertino-Bell, A., Smaoui, N., Neidich, J., Monaghan, K. G., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.148 · Cited by 1,036 · see citing works

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Rimmer, A., Phan, H. T. T., Mathieson, I., Iqbal, Z., Twigg, S. R. F., Wilkie, A. O. M., McVean, G., & Lunter, G. A. (2014) · Nature Genetics · doi:10.1038/ng.3036 · Cited by 1,019 · see citing works

Charting a course for genomic medicine from base pairs to bedside

Green, E. D., & Guyer, M. S. (2011) · Nature · doi:10.1038/nature09764 · Cited by 901 · see citing works

Implications of the Human Genome Project for Medical Science

Collins, F. S. (2001) · JAMA · doi:10.1001/jama.285.5.540 · Cited by 842 · see citing works

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

Richards, C. S., Bale, S., Bellissimo, D. B., Das, S., Grody, W. W., Hegde, M. R., Lyon, E., & Ward, B. E. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31816b5cae · Cited by 832 · see citing works

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

Zook, J. M., Chapman, B., Wang, J., Mittelman, D., Hofmann, O., Hide, W., & Salit, M. (2014) · Nature Biotechnology · doi:10.1038/nbt.2835 · Cited by 800 · see citing works

Resolving the complexity of the human genome using single-molecule sequencing

Chaisson, M., Huddleston, J., Dennis, M. Y., Sudmant, P. H., Malig, M., Hormozdiari, F., Antonacci, F., Surti, U., Sandstrom, R. S., Boitano, M., et al. (2014) · Nature · doi:10.1038/nature13907 · Cited by 783 · see citing works

The genetic ancestry of African Americans, Latinos, and European Americans across the United States

Bryc, K., Durand, E. Y., Macpherson, J. M., Reich, D., & Mountain, J. L. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.11.010 · Cited by 712 · see citing works

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

Worthey, E., Mayer, A. N., Syverson, G., Helbling, D., Bonacci, B. B., Decker, B., Serpe, J. M., Dasu, T., Tschannen, M., Veith, R., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182088158 · Cited by 704 · see citing works

De novo assembly and genotyping of variants using colored de Bruijn graphs

Iqbal, Z., Cáccamo, M., Turner, I., Flicek, P., & McVean, G. (2012) · Nature Genetics · doi:10.1038/ng.1028 · Cited by 695 · see citing works

Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

Zheng, G. X. Y., Lau, B. T., Schnall-Levin, M., Jarosz, M. V., Bell, J., Hindson, C. M., Kyriazopoulou-Panagiotopoulou, S., Masquelier, D. A., Merrill, L., Terry, J. M., et al. (2016) · Nature Biotechnology · doi:10.1038/nbt.3432 · Cited by 678 · see citing works

Clinical assessment incorporating a personal genome

Ashley, E. A., Butte, A. J., Wheeler, M. T., Chen, R., Klein, T. E., Dewey, F. E., Dudley, J. T., Ormond, K. E., Pavlovic, A., Morgan, A. A., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)60452-7 · Cited by 674 · see citing works

High-throughput epitope discovery reveals frequent recognition of neo-antigens by CD4+ T cells in human melanoma

Linnemann, C., van Buuren, M. M., Bies, L., Verdegaal, E. M. E., Schotte, R., Calis, J. J. A., Behjati, S., Velds, A., Hilkmann, H., Atmioui, D. E., et al. (2014) · Nature Medicine · doi:10.1038/nm.3773 · Cited by 671 · see citing works

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Saunders, C., Miller, N. A., Soden, S., Dinwiddie, D., Noll, A., Alnadi, N. A., Andraws, N., Patterson, M., Krivohlavek, L., Fellis, J., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004041 · Cited by 645 · see citing works

A genomic view of mosaicism and human disease

Biesecker, L. G., & Spinner, N. B. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3424 · Cited by 623 · see citing works

Genetic variants in ABCB1 and CYP2C19 and cardiovascular outcomes after treatment with clopidogrel and prasugrel in the TRITON–TIMI 38 trial: a pharmacogenetic analysis

Mega, J. L., Close, S. L., Wiviott, S. D., Shen, L., Walker, J. R., Simon, T., Antman, E. M., D, E. B. M., & Sabatine, M. S. (2010) · The Lancet · doi:10.1016/s0140-6736(10)61273-1 · Cited by 612 · see citing works

CNV-seq, a new method to detect copy number variation using high-throughput sequencing

Xie, C., & Tammi, M. T. (2009) · BMC Bioinformatics · doi:10.1186/1471-2105-10-80 · Cited by 582 · see citing works

The Precision Medicine Initiative

Ashley, E. A. (2015) · JAMA · doi:10.1001/jama.2015.3595 · Cited by 562 · see citing works

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Amendola, L. M., Jarvik, G. P., Leo, M. C., McLaughlin, H. M., Akkari, Y. M. N., Amaral, M. D., Berg, J. S., Biswas, S., Bowling, K. M., Conlin, L. K., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.03.024 · Cited by 556 · see citing works

Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes

Ezkurdia, I., Juan, D., Rodrı́guez, J. M., Frankish, A., Diekhans, M., Harrow, J., Vázquez, J., Valencia, A., & Tress, M. L. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu309 · Cited by 551 · see citing works

Effects of CYP2C19 Genotype on Outcomes of Clopidogrel Treatment

Paré, G., Mehta, S. R., Yusuf, S., Anand, S. S., Connolly, S. J., Hirsh, J., Simonsen, K. L., Bhatt, D. L., Fox, K. A. A., & Eikelboom, J. W. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1008410 · Cited by 534 · see citing works

Preemptive Clinical Pharmacogenetics Implementation: Current Programs in Five US Medical Centers

Dunnenberger, H. M., Crews, K. R., Hoffman, J. M., et al. (2014) · The Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-010814-124835 · Cited by 514 · see citing works

Treatment of Brain Arteriovenous Malformations

van Beijnum, J., van der Worp, H. B., Buis, D. R., Salman, R. A., Kappelle, L. J., Rinkel, G. J. E., van der Sprenkel, J. W. B., Vandertop, W. P., Algra, A., & Klijn, C. J. M. (2011) · JAMA · doi:10.1001/jama.2011.1632 · Cited by 502 · see citing works

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Kishnani, P. S., Austin, S. L., Abdenur, J. E., Arn, P. H., Bali, D. S., Boney, A., Chung, W. K., Dagli, A. I., Dale, D. C., Koeberl, D. D., et al. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.128 · Cited by 499 · see citing works

Assembly and diploid architecture of an individual human genome via single-molecule technologies

Pendleton, M., Sebra, R., Pang, A. W. C., Ummat, A., Franzén, O., Rausch, T., Stütz, A. M., Stedman, W., Anantharaman, T., Hastie, A. R., et al. (2015) · Nature Methods · doi:10.1038/nmeth.3454 · Cited by 474 · see citing works

Clinical Interpretation and Implications of Whole-Genome Sequencing

Dewey, F., Grove, M. E., Pan, C., Goldstein, B., Bernstein, J., Chaib, H., Merker, J., Goldfeder, R., Enns, G., David, S., et al. (2014) · Journal of the American Medical Association (JAMA) · doi:10.1001/jama.2014.1717 · Cited by 456 · see citing works

Incorporation of Pharmacogenomics into Routine Clinical Practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline Development Process

Caudle, K. E., Klein, T. E., Hoffman, J. M., Müller, D. J., Whirl‐Carrillo, M., Gong, L., McDonagh, E. M., Sangkuhl, K., Thorn, C. F., Schwab, M. G., et al. (2014) · Current Drug Metabolism · doi:10.2174/1389200215666140130124910 · Cited by 453 · see citing works

Contiguous and accurate de novo assembly of metazoan genomes with modest long read coverage

Chakraborty, M., Baldwin-Brown, J. G., Long, A. D., & Emerson, J. J. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw654 · Cited by 442 · see citing works

Abundant contribution of short tandem repeats to gene expression variation in humans

Gymrek, M., Willems, T., Guilmatre, A., Zeng, H., Markus, B., Georgiev, S., Daly, M. J., Price, A. L., Pritchard, J. K., Sharp, A. J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3461 · Cited by 410 · see citing works

Dindel: Accurate indel calls from short-read dataPreprint

Albers, C. A., Lunter, G. A., MacArthur, D. G., McVean, G., Ouwehand, W. H., & Durbin, R. M. (2010) · Genome Research · doi:10.1101/gr.112326.110 · Cited by 407 · see citing works

Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial

Roberts, J. D., Wells, G. A., May, M. R. L., Labinaz, M. X., Glover, C. A., Froeschl, M. P. V., DICK, A. J., Marquis, J.-F., O’Brien, E. R., Gonçalves, S. C., et al. (2012) · The Lancet · doi:10.1016/s0140-6736(12)60161-5 · Cited by 393 · see citing works

Efficient storage of high throughput DNA sequencing data using reference-based compressionPreprint

Fritz, M. H.-Y., Leinonen, R., Cochrane, G., & Birney, E. (2011) · Genome Research · doi:10.1101/gr.114819.110 · Cited by 388 · see citing works

Oxford Nanopore sequencing, hybrid error correction, and de novo assembly of a eukaryotic genomePreprint

Goodwin, S., Gurtowski, J., Ethe-Sayers, S., Deshpande, P., Schatz, M. C., & McCombie, W. R. (2015) · bioRxiv · doi:10.1101/gr.191395.115 · Cited by 377 · see citing works

Integrating genotype and phenotype information: an overview of the PharmGKB project

Klein, T. E., Chang, J. T., Cho, M. K., Easton, K. L., Fergerson, R. W., Hewett, M., Lin, Z., Liu, Y. I., Liu, S., Oliver, D. E., et al. (2001) · The Pharmacogenomics Journal · doi:10.1038/sj.tpj.6500035 · Cited by 357 · see citing works

Genetic variation and the de novo assembly of human genomes

Chaisson, M., Wilson, R. K., & Eichler, E. E. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3933 · Cited by 337 · see citing works

Warfarin Genotyping Reduces Hospitalization Rates

Epstein, R. S., Moyer, T. P., Aubert, R. E., O’Kane, D. J., Xia, F., Verbrugge, R. R., Gage, B. F., & Teagarden, J. R. (2010) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2010.03.009 · Cited by 336 · see citing works

Erratum to: Clinical metagenomic identification of Balamuthia mandrillaris encephalitis and assembly of the draft genome: the continuing case for reference genome sequencing

Greninger, A. L., Messacar, K., Dunnebacke, T. H., Naccache, S. N., Federman, S., Bouquet, J., Mirsky, D. M., Nomura, Y., Yagi, S., Glaser, C. A., et al. (2016) · Genome Medicine · doi:10.1186/s13073-015-0257-9 · Cited by 333 · see citing works

Performance comparison of whole-genome sequencing platforms

Lam, H. Y. K., Clark, M. J., Chen, R., Chen, R., Natsoulis, G., O’Huallachain, M., Dewey, F. E., Habegger, L., Ashley, E. A., Gerstein, M., et al. (2011) · Nature Biotechnology · doi:10.1038/nbt.2065 · Cited by 308 · see citing works

Whole-Genome Sequencing for Optimized Patient Management

Bainbridge, M., Wiszniewski, W., Murdock, D. R., Friedman, J., Gonzaga-Jauregui, C., Newsham, I., Reid, J., Fink, J., Morgan, M. B., Gingras, M., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002243 · Cited by 305 · see citing works

The importance of phase information for human genomics

Tewhey, R., Bansal, V., Torkamani, A., Topol, E. J., & Schork, N. J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2950 · Cited by 302 · see citing works

Expressed Pseudogenes in the Transcriptional Landscape of Human Cancers

Sundaram, S. K., Kumar‐Sinha, C., Shankar, S., Robinson, D. R., Wu, Y.-M., Cao, X., Asangani, I. A., Kothari, V., Prensner, J. R., Lonigro, R. J., et al. (2012) · Cell · doi:10.1016/j.cell.2012.04.041 · Cited by 301 · see citing works

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Gahl, W. A., Markello, T. C., Toro, C., Fajardo, K. F., Sincan, M., Gill, F., Carlson-Donohoe, H., Gropman, A., Pierson, T. M., Golas, G., et al. (2012) · Genetics in Medicine · doi:10.1038/gim.0b013e318232a005 · Cited by 291 · see citing works

Cost-Effectiveness of Using Pharmacogenetic Information in Warfarin Dosing for Patients With Nonvalvular Atrial Fibrillation

Eckman, M. H., Rosand, J. M., Greenberg, S. M., & Gage, B. F. (2009) · Annals of Internal Medicine · doi:10.7326/0003-4819-150-2-200901200-00005 · Cited by 280 · see citing works

Defining a personal, allele-specific, and single-molecule long-read transcriptome

Tilgner, H., Grubert, F., Sharon, D., & Snyder, M. P. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1400447111 · Cited by 266 · see citing works

Computational genomics tools for dissecting tumour–immune cell interactions

Hackl, H., Charoentong, P., Finotello, F., & Trajanoski, Z. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.67 · Cited by 266 · see citing works

The Repetitive DNA Content of Eukaryotic Genomes

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Reconstructing complex regions of genomes using long-read sequencing technologyPreprint

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TRANSFORMING HEALTHCARE WITH PRECISION MEDICINE: UNVEILING THE FUTURE OF PERSONALIZED TREATMENT

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